Research

Here's a blog from FPWR Board member Shawn Johnson about the "PWS Research Challenge: Advancing Appetite and Satiety Research", which FPWR has launched in collaboration with InnoCentive.  Shawn championed the idea of a crowdsourcing approach to generate new insight into hyperphagia in PWS:

 Oxytocin is a hormone that has a number of important functions.  It gets thing rolling in childbirth – sending moms into labor, but also helping set the stage for the bonding that will occur in the newborn period.

Even if you never thought of yourself as a science nerd, it’s worthwhile for parents of children with rare diseases to become educated about the research and the drug development process (when you’re not attending to the thousand other things you need to learn to care for your child!).   Here are a couple of resources to help:

In case you missed it, the National Institutes of Health (NIH) released its 2011 Strategic Plan for Obesity Research, which will serve as a guide to accelerate research into understanding and treating obesity.  Two versions (summary and full) are available for download on the NIH Obesity Research site.  The “full” version is directed towards the scientific community, but it’s not overly technical and worth reading if you have an interest. 

In 2011, FPWR is pleased to be able to support a diverse group of projects aimed at advancing our understanding of PWS at the molecular level, developing tools that can be used to accelerate research, and examining clinical issues in PWS.  The details of the projects, including a summary provided by each investigator, are available here; below is an overview.

“Excessive daytime sleepiness” (EDS) is one of those symptoms of PWS that tends not to get too much attention – although very common, it just doesn’t seem that serious.  However, EDS can profoundly undermine success in older children and adults with PWS.

Dr. Shawn McCandless and the Committee on Genetics at the American Academy of Pediatrics have just published "Clinical Report: Health Supervision for Children with Prader-Willi Syndrome" in the Journal of Pediatrics.  The article is available for download (free!) here: [McCandless, 2010].

There has been much talk about the coming of “personalized medicine”, which has been made possible by the sequencing of the human genome as well as more recent studies characterizing millions of common genetic variants (known as “SNPs” in genetics lingo) and associating those variants with simple and complex diseases and disorders.  One example of how personalized medicine might be used is provided in the December issue of the journal “Spine” (also described in an msnbc story here).  T

FPWR's annual conference was held Sept 11-13 in Bethesda, MD.  We were really fortunate to have some outstanding scientists come and speak with us, and it was a great opportunity to learn about PWS research from those who are doing it.  A summary of the events and talks has been posted here. 

Having just recently announced FPWR’s projects funded in 2010 [see full list here], it’s very exciting to already be able to announce a major advance as a result of that funding.   Dr.